Seroatlas · Human Serome Atlas

PITPNC1

Cytoplasmic phosphatidylinositol transfer protein 1

Also known as: PITC1_HUMAN, RDGB-BETA, RDGBB, RDGBB1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UKF7
Gene: PITPNC1
Ensembl: ENSG00000154217
Chromosome: 17
Canonical length: 332 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

332 residues, UniProt reviewed canonical sequence.

>Q9UKF7|PITPNC1
     1  MLLKEYRICM PLTVDEYKIG QLYMISKHSH EQSDRGEGVE VVQNEPFEDP HHGNGQFTEK
    61  RVYLNSKLPS WARAVVPKIF YVTEKAWNYY PYTITEYTCS FLPKFSIHIE TKYEDNKGSN
   121  DTIFDNEAKD VEREVCFIDI ACDEIPERYY KESEDPKHFK SEKTGRGQLR EGWRDSHQPI
   181  MCSYKLVTVK FEVWGLQTRV EQFVHKVVRD ILLIGHRQAF AWVDEWYDMT MDEVREFERA
   241  TQEATNKKIG IFPPAISISS IPLLPSSVRS APSSAPSTPL STDAPEFLSV PKDRPRKKSA
   301  PETLTLPDPE KKATLNLPGM HSSDKPCRPK SE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITPNC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 24 nTPM
cerebral cortex: 20 nTPM
amygdala: 17 nTPM
midbrain: 17 nTPM
hypothalamus: 15 nTPM
retina: 14 nTPM

Single-cell type

astrocytes: 2,098 nCPM
pituicytes/fscs: 1,514 nCPM
pancreatic acinar cells: 1,496 nCPM
nk-cells: 1,401 nCPM
bergmann glia: 1,276 nCPM
choroid plexus epithelial cells: 1,142 nCPM

Immune cell

gdT-cell: 11 nTPM
eosinophil: 10 nTPM
memory CD8 T-cell: 9.3 nTPM
naive CD8 T-cell: 8.4 nTPM
naive CD4 T-cell: 8.3 nTPM
memory CD4 T-cell: 6.9 nTPM

Brain region

thalamus: 109 nTPM
midbrain: 104 nTPM
medulla oblongata: 100 nTPM
hypothalamus: 83 nTPM
basal ganglia: 80 nTPM
spinal cord: 78 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.25
gnomAD pLI: 0.99
gnomAD missense Z: 2.36
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PITPNC1 as an antibody target. Whether an autoantibody or antibody against PITPNC1 could matter depends on whether native PITPNC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITPNC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PITPNC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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